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The most common cause of medial scapular winging is long thoracic nerve palsy (LTN) and subsequent serratus anterior muscle dysfunction. A 16-year-old right-handed male high-school rugby player developed severe right-sided neck and shoulder pain after tackling an opponent while playing rugby. Six weeks after initial injury, the patient observed shoulder muscle weakness when performing his daily activities. On physical examination, limited active elevation of the right shoulder in the scapular plane and scapular winging was observed. Magnetic resonance imaging revealed atrophy of both the SA and subclavius muscles on the right side, and we initially suspected an LTN injury sustained. However, while detailing his history, the patient explained that he also had noted difficulty sucking high viscosity drinks such as shakes and smoothies since childhood. In addition, physical examination showed weakness of the orbicularis oculi muscle. Considering the facial muscle weakness, facioscapulohumeral dystrophy (FSHD) was also suspected, and genetic testing showed chromosome 4q35 deletion with restriction fragments 17 kb and 3 tandem repeated DNA confirming the diagnosis of FSHD. Clinicians should be aware that FSHD could be one of the differential diagnoses of scapular winging after sports injury, and surgeons should rule out the diagnosis of FSHD before performing any surgical treatment for SA palsy.

Patient: Male, 37-year-old Final Diagnosis: Guillain-Barré syndrome Symptoms: Facial paralysis • paresthesia Medication: — Clinical Procedure: Cerebrospinal fluid analysis • magnetic resonance image • nerve conduction study Specialty: Neurology Objective: Unusual clinical course Background: Guillain-Barré syndrome (GBS) is an autoimmune disease of the peripheral nervous system. It has multiple presentations, demyelinating or axonal, according to the pattern of injury. In general, there are cardinal symptoms, such as areflexia and ascending symmetrical lower limb weakness. GBS has multiple different variants. Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is the most common type. Other known variants are acute motor and sensory axonal neuropathy, acute motor axonal neuropathy, acute sensory neuropathy, acute pan dysautonomia, and Miller Fisher syndrome. Case Report: In the present case, the patient had initial symptoms of distal bilateral paresthesia and 12 days later he developed left facial muscle weakness, a decrease in ability to taste, and right facial muscle weakness. Two days later the patient said he did not have limb weakness. On examination, he had bilateral lower motor facial palsy, the power in his upper and lower right limbs was 4/5, and he had bilateral upper limb hyperreflexia. Results of a nerve conduction study were consistent with acute demyelinating polyneuropathy with secondary axonal loss. The patient was treated with immunoglobulin G, 0.4 mg/kg/d for 5 days, and fully recovered. Conclusions: Facial diplegia is one of the GBS variants that presents rarely as pure bilateral facial weakness or is preceded by bilateral lower limb weakness. The present case underscores that patients with GBS may have facial diplegia before weakness. Also, they may not have areflexia as a cardinal feature, and instead, hyperreflexia may be seen. Although hyperreflexia has been reported in association with the acute motor axonal variant, the present case shows that hyperreflexia also can be found with AIDP.

OBJECTIVE Cytochrome c oxidase (COX) deficiency is a major mitochondrial respiratory chain defect that has vast genetic and phenotypic heterogeneity. This study aims to identify novel causative genes of COX deficiency with only striated muscle-specific symptoms. METHODS Whole exome sequencing was performed in 2 unrelated individuals who were diagnosed with congenital myopathy and presented COX deficiency in muscle pathology. We assessed the COX6A2 variants using measurements of enzymatic activities and assembly of mitochondrial respiratory chain complexes in the samples from the patients and knockout mice. RESULTS Both patients presented muscle weakness and hypotonia in 4 limbs along with facial muscle weakness. One patient had cardiomyopathy. Neither patient exhibited involvement from other organs. Whole exome sequencing identified biallelic missense variants in COX6A2, which is expressed only in the skeletal muscle and heart. The variants detected were homozygous c.117C > A (p.Ser39Arg) and compound heterozygous c.117C > A (p.Ser39Arg) and c.127T > C (p.Cys43Arg). We found specific reductions in complex IV activities in the skeletal muscle of both individuals. Assembly of complex IV and its supercomplex formation were impaired in the muscle. INTERPRETATION This study indicates that biallelic variants in COX6A2 cause a striated muscle-specific form of COX deficiency. ANN NEUROL 2019;86:193-202.

Objective To characterize the inflammatory myopathy associated with programmed cell death 1 inhibitors (PD-1 myopathy). Methods We studied 19 Japanese patients with PD-1 myopathy (13 men and 6 women, mean age 70 years), who were referred to Keio University. As control groups, we used 68 patients with anti-signal recognition particle antibodies, 51 patients with anti-aminoacyl transfer RNA synthetase antibodies and 460 healthy subjects. Results In regard to muscle-disease severity, 10 patients showed a mild form of disease and 9 patients showed a severe form. Non-small cell lung cancer was the most common underlying cancer. PD-1 inhibitor consisted of 11 nivolumab and 8 pembrolizumab. PD-1 myopathy occurred 29 days on average after the first administration of PD-1 inhibitor. The initial manifestation of muscle weakness was ptosis in 10 patients, 15 patients had ptosis, 13 diplopia, 8 facial muscle weakness, 10 bulbar symptoms, 13 limb weakness, 14 neck weakness, 4 cardiac involvement, 6 respiratory involvement and 16 myalgia. Ocular, facial, cardiac and respiratory involvement and myalgia were more frequently observed than controls. Serum creatine kinase was increased to 5247 IU/L on average. Autoantibodies related to inflammatory myopathy were negative, while anti-striational antibodies were found in 13 (68%) patients. HLA-C*12:02 alleles were more frequently detected than healthy controls. Muscle pathology was characterized by multifocal necrotic myofibers with endomysial inflammation and expression of MHC class I. Immunosuppressive therapy with corticosteroids was generally effective for muscle weakness. Conclusions Based on our clinical, histological and immunological findings, PD-1 myopathy is a discrete subset of inflammatory myopathy.

A 59-year-old woman presented with a 7-year history of facial numbness on the left side, and gradual worsening of symptoms. Over several years, facial muscle weakness, dysarthria, tongue atrophy and fasciculation had progressed. Then, she developed cerebellar ataxia affecting the left extremities, in addition to earlier symptoms. Brain MRI revealed cerebellar atrophy, and 99mTc-SPECT depicted cerebellar hypoperfusion. A repetitive nerve stimulation test (RNS) indicated abnormal decrement in the nasalis and trapezius muscles on the left side. Facial-onset sensory and motor neuronopathy (FOSMN) was diagnosed. Administration of intravenous immunoglobulin resulted in improvement of some symptoms. Although cerebellar ataxia is not a common symptom of FOSMN, a case showing TDP-43-positive glial cytoplasmic inclusions in cerebellar white matter has been reported. Therefore, it is possible that FOSMN may cause cerebellum impairment in some patients. Furthermore, RNS positive rate in the trapezius muscle is known to be high in amyotrophic lateral sclerosis (ALS) patients. It is speculated that RNS of the affected muscles in FOSMN may show abnormal decrement by the same mechanisms as ALS.

Facial nerve trauma is a common cause of facial paralysis; both blunt and penetrating forces may compromise the facial nerve. A comprehensive primary and secondary survey is essential for diagnosis and treatment of the injury. Here we report on a young patient who sustained a quad bike accident, leading to an perforating injuries of the face from a bough, causing facial paralysis.

A 72-year-old man was admitted to our hospital because of right facial muscle weakness and diplopia. He had been treated for aplastic anemia with cyclosporin for 2 years. Thirteen days before admission, a diagnosis of herpes zoster was made and treated with amenamevir. On admission, neurological examination revealed mild cognitive disturbance, mydriasis, weakness of the inferior rectus muscle of the left eye, and right peripheral facial nerve palsy. Cerebrospinal fluid (CSF) analysis showed elevated leukocytes and increased protein levels. Antibody index to varicella-zoster virus (VZV) was elevated in CSF to 25.6, although VZV DNA was negative by PCR. Head CT revealed multiple intracerebral hemorrhages in the left dorsal pons, left ventral midbrain, left thalamus, and left front-parietal lobe. MR angiography detected cerebral artery stenosis. In addition to intravenous acyclovir, the patient was treated with steroid pulse therapy and steroid tapering therapy. One month after admission, his symptoms improved. We diagnosed him with VZV vasculopathy. We believe that multiple intracerebral hemorrhages due to VZV vasculopathy caused facial and oculomotor nerve palsy. Our findings suggest that cerebral hemorrhage induced by VZV vasculopathy must be considered when differentiating cranial nerve palsy after herpes zoster.

Background Glycogen storage disease type II (GSDII) or Pompe disease is a rare autosomal recessive metabolic disorder that leads to intracellular glycogen storage in many tissues, mainly in skeletal muscle, heart and liver. Facial muscle weakness and altered craniofacial growth are very common in Pompe disease children. In this paper we describe the orofacial features in two children affected by GSDII and illustrate a multidisciplinary approach that involved enzyme replace therapy, non-invasive ventilation (NIV) and pediatric dentistry with 5-year follow-up. Results Two Infantile Pompe Disease children were examined by a pediatric dentist at the age of 4 and 5 years old respectively. The orofacial examination showed typical facies with similar features: hypotonia of facial and tongue muscles, lip incompetence, narrow palate with reduction in transversal dimension of the upper dental arch, macroglossia, low position of the tip of the tongue, concave profile, Class III malocclusion with hypoplasia of maxillary-malar area and mandibular prognathism. Myofunctional therapy and orthodontic treatment consisted in oral muscle exercises associated to intraoral and extraoral orthodontic devices. NIV facial mask was substituted with a nasal pillow mask in order to avoid external pressure on the mid-face which negatively influences craniofacial growth. Conclusions This paper evidences that the pediatric dentist plays an important role in craniofacial growth control, oral function rehabilitation and, therefore, in the improvement of the quality of life of Pompe children and their families. Therefore an early pediatric dental evalutation should be included in the multidisciplinary management of children suffering from Infantile Pompe Disease.

Objective: To report a case of acute bilateral facial nerve palsy in a 24-year-old woman and to present the differential diagnoses, pathophysiology, management and prognosis Methods: Design: Case study Setting: Tertiary Private Hospital Patient: One (1) Result: A 24-year-old woman with fever, joint pains, cough, chest pain, difficulty ambulating and progressive facial muscle weakness was diagnosed with rheumatic fever. Bilateral facial nerve paralysis was noted, and Electromyography-Nerve Conduction Velocity (EMG-NCV) testing with special facial nerve study revealed abnormal facial nerve and blink reflex studies while EMG-NCV of the upper and lower limbs were normal. Audiometry and MRI of the brain and facial nerve were normal while Schirmer’s Test showed decreased tearing in both eyes. The rheumatic fever resolved within 5 days of antibiotics, while Prednisone and physiotherapy resulted in improvement of facial paralysis from House Brackmann V to House Brackmann II-III over a period of 6 months. Conclusion: Idiopathic facial paralysis or Bell’s Palsy is the most common cause of acute unilateral facial paralysis while bilateral facial nerve paralysis is a rare condition. Patients with facial palsy should undergo appropriate diagnostics to determine the underlying condition and to facilitate prompt management. Keywords: facial paralysis, idiopathic; Bell’s palsy

Adenoid Cystic Carcinoma (ACC) is an infrequent slow growing epithelial tumour constituting for around less than 1% of all the oral and maxillo-facial malignancies and almost 10% of all the salivary gland tumors. Parotid gland is the second most common site to be involved in the head and neck region along with submandibular gland, Palate being the most common site involved in the oral cavity. Key feature of these tumors include its asymptomatic presentation, indolent nature, typically showing infiltrative growth and peri-neural invasion. Herein, we report a case of adenoid cystic carcinoma of right parotid gland of a 33-year-old male who presented with complaint of painless slow enlargement of left parotid gland and facial muscle weakness. On Examination firm mass in the region of the left parotid gland as well as left facial paralysis was seen. Biopsy results and further management is discussed here within.

Background and purpose Facial-sparing scapular myopathy (SHD) is the most common atypical form of facioscapulohumeral muscular dystrophy (FSHD), clinically defined as without apparent facial muscle weakness on neurological examination. The clinical profiles and genetic features of SHD are limited. Methods A cohort of 21 Chinese patients with SHD were confirmed by molecular genetic analysis based on pulsed-field gel electrophoresis. The clinical assessments and methylation analysis were noted. Results The patients had FSHD-related EcoRI fragments with 4qA haplotype ranging from 18 kb to 33 kb (mean 26.3 ± 4.6 kb). The mean onset age was 25.52 ± 8.3 years. Over half of the patients had scapular winging and asymmetry weakness consistent with FSHD, without facial symptoms during their visit. Their facial electromyogram results were almost normal or mild myogenic damage, as well as the myopathology and serum creatine kinase. A conflict was unexpectedly found in intergenerational DR1 methylation analysis. Conclusion Facial-sparing scapular myopathy is characterized as mild myopathic symptoms and chronic progression of weakness. The diagnosis should be accurately confirmed through FSHD-sized fragment detection and 4qA/B variant determination. Although the next generations of SHD had more severe muscular symptoms, local hypomethylation within D4Z4 was not found as a modifier for clinical heterogeneity.

Bell’s palsy is an unexplained episode of facial muscle weakness or paralysis that begins suddenly and worsens over three to five days. A specific cause of Bell’s palsy is unknown. However, inflammation of facial nerve is probable considered as probable cause. its complications are inability to control the facial muscle on the affected side. lagophthalmos, pain around the ear. According to Ayurveda Bell’s Palsy can be correlated to Ardit. It is type of Vata Vyadhi in which Prakupit Vata dosha affecting shir, nasa, oshata, hanu, lalat, and netra. According to Shusharut samhita, Charaka samhita, and Nighantu ratanakar Nasya,Tarpana and Viddha karma are indicated to treat Ardit . Nasya of Ksheerabala 101Aavarthi tailam, Tarpana of Jivantyadi Ghritam were given to the patient for 6 months. After treatment patient had relief in above mentioned

Background Systemic lupus erythematosus (SLE) is associated with several neuropsychiatric syndromes involving both the central and peripheral nervous systems. These syndromes are related with SLE progression and thus, are rarely present at the onset of disease. We are reporting a rare case of acute inflammatory demyelinating polyneuropathy (AIDP) as the first manifestation of SLE in a previously asymptomatic patient. Methods Not applicable as it is a clinical vignette The abstract for clinical vignette is uploaded as a separate document Results Not applicable as it is a clinical vignette The abstract for clinical vignette is uploaded as a separate document Conclusions Symptoms of AIDP frequently start in lower extremities, yet in about 10% of patients, arm or facial muscle weakness can be the initial presentation. CSF analysis typically revealed an elevated protein with a normal white cell count; however, a normal CSF protein is observed in one-third to one-half of patients when tested early in the disease course. Our patient had upper extremity weakness as well as initial negative CSF findings, which led to the delay in diagnosis. It is imperative to have a sound knowledge of the typical as well as atypical neurological manifestations of SLE to reduce the morbidity and mortality rate of patients. Funding Source(s): None

Introduction: Paramyotonia congenita (PC; OMIM 168300) is a non-dystrophic myotonia caused by mutations in the SCN4A gene. Transient muscle stiffness, usually induced by exposure to cold and aggravated by exercise, is the predominant clinical symptom, and interictal persistent weakness is uncommon. Case presentation: We report a family with a history of PC accompanied by persistent distal hand dominant muscle weakness with masticatory muscle involvement. Persistent weakness was exacerbated with age, and MR analysis showed marked atrophy of temporal, masseter, and finger flexor muscles with fatty replacement. Cases within the family harbor the prevalent PC causative mutation, T1313M, in the SCN4A gene. Administration of acetazolamide chloride improved clinical symptoms and the results of cold and short exercise tests. Phenotypic variation within the family was remarkable, as the two younger affected patients did not present with persistent weakness or muscle atrophy. Conclusions: PC associated with the T1313M mutation is a possible cause of persistent distal hand weakness.

Mutations in the Dynactin 1 (DCTN1) gene have been demonstrated to result in various neurodegenerative diseases, including distal hereditary motor neuropathy type 7B (dHMN7B), Perry syndrome, amyotrophic lateral sclerosis and amyotrophic lateral sclerosis‑frontotemporal dementia. However, since the first dHMN7B patient with a DCTN1 mutation was described in 2003, to the best of our knowledge no further cases have been reported. In the present study, the DCTN1 p.G59S mutation was identified in two unrelated families from a total of 24 Korean families with dHMN, by whole exome sequencing. Codon 59 appears to be the mutational hot spot in the DCTN1 gene, as all described dHMN7B patients to date have harbored an identical p.G59S mutation. The families of the present study with the DCTN1 mutation had a milder disease with a later onset compared with the previously described patients. No affected family members exhibited facial muscle weakness or bulbar involvement. One family member demonstrated vocal cord palsy as the initial sign of disease; however, in the other family hand muscle weakness was the first major symptom. No affected patients demonstrated sensory loss or upper motor neuron involvements. Although this is only the second report of dHMN7B resulting from a DCTN1 mutation, the frequency of the DCTN1 mutation was not low in the Korean population examined, and clinical heterogeneities were observed in patients with the DCTN1 mutation. Therefore, it may be beneficial to screen all dHMN patients for the DCTN1 mutation.

Charcot-Marie-Tooth disease type 4H (CMT4H) is a rare variant of autosomal recessive hereditary neuropathy. It is caused by FGD4 mutations and characterized by early infantile onset, slowly progressive distal muscle weakness, scoliosis, and myelin outfoldings visible in nerve biopsy samples. Here, we report a 65-year-old male born to consanguineous parents, who carries a novel homozygous FGD4 c.724C>T nonsense mutation. He developed lower limb weakness in his teens, which progressed slowly and was accompanied by diplopia, bilateral hearing loss, and erectile dysfunction from his twenties. At the age of 65, he was wheelchair-bound and had mild scoliosis, bilateral ophthalmoplegia, facial muscle weakness, inner ear hearing loss, distal-dominant weakness, and sensory disturbance, but no cognitive deterioration. Magnetic resonance imaging revealed enlarged bilateral trigeminal and facial nerves. Accordingly, we believe that this mutation causes slowly progressive sensorimotor neuropathy with apparent cranial nerve involvement, thereby further expanding the clinical spectrum of CMT4H.

A 72-year-old man presented with sudden onset of right-sided facial muscle weakness and slurred speech and a 3-day history of fevers, myalgia and sore throat. There was no hyperacusis, change in taste or lacrimation. His history included untreated hepatitis C diagnosed 10 years before, but quiescent at his annual liver review 8 weeks before presentation. He smoked cannabis intermittently but there was no recent alcohol or other drug abuse. There was a history of promiscuity with female partners. On examination, he was alert and orientated. His blood pressure was elevated at 159/86 mm Hg but other vital signs and general examination were normal. Neurological examination showed a severe right-sided lower motor facial weakness with Bell's phenomenon (see online supplementary video). The remaining cranial nerve examination was normal, including eye movements, pupillary responses, facial sensation, hearing, taste and otoscopy. There was mild left hip flexion weakness but preserved deep tendon reflexes. There was reduced sensation to temperature in a glove-and-stocking pattern; joint-position sense, light touch and pain sensation were intact. There was mild gait instability on walking tandem. His condition progressed rapidly and on day 2 of admission he developed left-sided facial weakness (figure 1) with bilateral, proximal lower limb weakness. His paraesthesias were more painful. His lower limb deep tendon reflexes were no longer present (see online supplementary video). Spirometry remained normal. He was transferred to a high dependency unit for ongoing monitoring. Figure 1 Bifacial lower motor neurone weakness (see online supplementary video). ### Question 1 What is the differential diagnosis and what are the most appropriate investigations? Lower motor neurone facial weakness and (to a lesser extent) the absence of deep tendon reflexes are highly localising signs. The lesion explaining the facial and the limb weakness can be …

Classic infantile Pompe disease is an inherited generalized glycogen storage disorder caused by deficiency of lysosomal acid α-glucosidase. If left untreated, patients die before one year of age. Although enzyme-replacement therapy (ERT) has significantly prolonged lifespan, it has also revealed new aspects of the disease. For up to 11 years, we investigated the frequency and consequences of facial-muscle weakness, speech disorders and dysphagia in long-term survivors. Sequential photographs were used to determine the timing and severity of facial-muscle weakness. Using standardized articulation tests and fibreoptic endoscopic evaluation of swallowing, we investigated speech and swallowing function in a subset of patients. This study included 11 patients with classic infantile Pompe disease. Median age at the start of ERT was 2.4 months (range 0.1-8.3 months), and median age at the end of the study was 4.3 years (range 7.7 months −12.2 years). All patients developed facial-muscle weakness before the age of 15 months. Speech was studied in four patients. Articulation was disordered, with hypernasal resonance and reduced speech intelligibility in all four. Swallowing function was studied in six patients, the most important findings being ineffective swallowing with residues of food (5/6), penetration or aspiration (3/6), and reduced pharyngeal and/or laryngeal sensibility (2/6). We conclude that facial-muscle weakness, speech disorders and dysphagia are common in long-term survivors receiving ERT for classic infantile Pompe disease. To improve speech and reduce the risk for aspiration, early treatment by a speech therapist and regular swallowing assessments are recommended. Electronic supplementary material The online version of this article (doi:10.1007/s10545-011-9404-7) contains supplementary material, which is available to authorized users.

School nurses may be the first health professionals to assess the onset of facial paralysis/muscle weakness in school-age children. The purpose of this study was to test the psychometric properties of the Gordon Facial Muscle Weakness Assessment Tool (GFMWT) developed by Gordon. Data were collected in two phases. In Phase 1, 4 content experts independently rated each of the 22 items on the GFMWT for content relevance. The ratings were used to generate Item and Scale Content Validity Index (CVI) scores. In Phase 2, school nurses ( N = 74) attending a state conference independently rated referral urgency on a set of 10 clinical scenarios using the GFMWT. The GFMWT had an item and scale CVI of 1.0. Overall, the interrater reliability was .602 ( p < .001). When used by school nurses, the GFMWT was shown to be both a reliable and a valid tool to assess facial muscle weakness in school-age children.

Introduction/Background The etiology of Bell's palsy (BP) is still not defined. Familial inheritance has been found in 4–14% of cases. We describe a case of one such family affected by BP and review the current literature concerning hereditary influences. Material and method The patient case history, clinical examination and detailed family history provided by the patient. Results We report the case of a ten-month-old female presented with acute onset of right-sided facial muscle weakness. BP is rare in children under the age of two years. Further questioning revealed she was one of seven members with a history of BP. One of those was another children (seven-months-old) affected by BP ( Fig. 1 ). The manifestation is slightly greater in females at a 1.5 to 1 ratio. There are some described causes of facial nerve palsy in children, as it can be congenital or acquired. The literature showed the association between HLA and BP. It was postulated that familial facial palsy is an autoimmune disease with genetic predisposition, suggesting autosomal dominant inheritance with low penetrance or variable penetrance. One study of 92 patients with BP found a significant decrease in the HLA class 2 DR antigen and severely decreased levels of CD3/CD4 T cells, suggesting that it may exist resistance HLA-DR gene. Furthermore, it is described in literature that a structural abnormality of the dimension of facial canal is the most common cause of the familial facial palsy. Conclusion There are few cases described about familial facial palsy in the literature. It's uncommon BP in children under two years. The familial clustering of BP is not an incidental happening, the number of related cases suggests the familial influence component. Familial facial palsy is an autoimmune disease with an HLA genetic association or anatomical abnormality of the facial canal.

Objectives Electromyography (EMG) plays a major role to confirm the presence of neuromuscular transmission disorders. Furthermore, it helps to recognize the presynaptic or postsynaptic nature of the disorder. Indeed, specialized neurophysiological tests and characteristic electrophysiological findings are widely useful for etiological diagnosis [1] , [2] . Results Here we report two cases, a 36 years-old woman and 37 years-old men who presented to our department for facial muscle weakness. The female presented for drooping of both eyelids with diplopia, which appears while reading. Neurological examination showed bilateral asymmetric ptosis and complete ophtalmoplegia. Pupillary light reflex was normal as well as the rest of the neurological examination. The neostigmine test was positive. Repetitive nerve stimulation (RNS) testat 3 Hz stimulation, showed a significant decremental response in both area and amplitude with repetitive compound muscle action potentials (R-CMAP). Muscle biopsy eliminated centro-nuclear myopathy. We then considered the diagnosis of postsynaptic congenital myasthenic syndrome. The man presented with a ten days history of facial muscle weakness, dysphonia and swallowing disorders without diurnal fluctuation. Neurological examination noted symmetric proximal limb weakness. Clinical picture was concordant with acute inflammatory demyelinating polyradiculoneuropathy. Lumbar puncture did not evidence albumino-cytologic dissociation. Electrodiagnostic studies demonstrated a reduction in the initial CMAP amplitude, a decremental response to slow stimulation rates (3 Hz), followed by incremental response after a tetanic stimulation consistant with Lambert Eaton Syndrome. Conclusion In general, full anamnestic data and careful clinical examination are sufficient to make the diagnosis of myastenic syndrome. Nevertheless, the lack of diurnal fluctuation and a clear pattern of muscle distribution can sometimes lead to misdiagnosing this disorder [2] , [3] . Moreover, myastenic syndrome with predominant facial muscle involvement share overlapping symptoms with other muscle disease like mitochondrial and centro-nuclear myopathy. These findings delineate the contribution of EMG to differential and etiologic diagnosis [1] .

Two cases of spinocerebellar ataxia type 14 (SCA14) with a G128D mutation in the protein kinase C gamma gene (PRKCG) without a definite family history have been reported previously. Here, we describe the first familial cases of SCA14 with a G128D mutation in PRKCG. Among three family members, the chief complaints varied and included ataxic gait, cervical dystonia, and positional vertigo. Moreover, retinal degeneration and facial muscle weakness were observed, although these are not expected to be present in SCA14. Cerebral blood flow evaluation using single photon emission computed tomography (SPECT) also differed among family members. It is possible that patients with the G128D mutation suffering from SCA14 may sometimes be classified as unaffected due to the varying clinical signs among family members.

Maximal expiratory mouth pressure is a well established test that is used to assess expiratory muscle strength. However, low values are difficult to interpret, as they may result from technical difficulties in performing the test, particularly in patients with facial muscle weakness or bulbar dysfunction. We hypothesized that measuring the gastric pressure during a cough, a natural maneuver recruiting the expiratory muscles, might prove to be a useful additional test in the assessment of expiratory muscle function. Mouth expiratory and cough gastric pressures were measured in 99 healthy volunteers to obtain normal values and in 293 patients referred for respiratory muscle assessment to compare the two measurements. Between-occasion within-subject coefficient of variation, assessed in 24 healthy volunteers, was 10.3% for mouth pressure and 6.9% for cough. Mean +/- SD cough gastric pressure for normal males was 214.4 +/- 42.2 and 165.1 +/- 34.8 cm H2O for females. In 171 patients deemed weak by a low mouth expiratory pressure, 42% had a normal cough gastric pressure. In 105 patients deemed weak by a low cough gastric pressure, 5.7% had a normal expiratory mouth pressure. Low maximal expiratory mouth pressures do not always indicate expiratory muscle weakness. Cough gastric pressure provides a useful complementary test for the assessment of expiratory muscle strength.

Background Limb girdle muscular dystrophy type 2G (LGMD2G) is a subtype of autosomal recessive muscular dystrophy caused by mutations in the telethonin gene. There are few LGMD2G patients worldwide reported, and this is the first description associated with early tibialis anterior sparing on muscle image and myopathic-neurogenic motor unit potentials. Case presentation Here we report a 31 years old caucasian male patient with progressive gait disturbance, and severe lower limb proximal weakness since the age of 20 years, associated with subtle facial muscle weakness. Computed tomography demonstrated soleus, medial gastrocnemius, and diffuse thigh muscles involvement with tibialis anterior sparing. Electromyography disclosed both neurogenic and myopathic motor unit potentials. Muscle biopsy demonstrated large groups of atrophic and hypertrophic fibers, frequent fibers with intracytoplasmic rimmed vacuoles full of autophagic membrane and sarcoplasmic debris, and a total deficiency of telethonin. Molecular investigation identified the common homozygous c.157C > T in the TCAP gene. Conclusion This report expands the phenotypic variability of telethoninopathy/ LGMD2G, including: 1) mixed neurogenic and myopathic motor unit potentials, 2) facial weakness, and 3) tibialis anterior sparing. Appropriate diagnosis in these cases is important for genetic counseling and prognosis.

Respiratory muscle weakness, be it of acute or chronic onset, is a potentially threatening condition. Weakness of inspiratory muscles generates an imbalance between muscle load and capacity that, when severe enough, leads to hypercapnic respiratory failure. Conversely, weakness of expiratory muscles impairs cough and airway clearance and favours lung atelectasis and infection. Dysfunction of both respiratory muscle groups commonly precipitates acute respiratory failure in neuromuscular disorders. In recent years, the importance of respiratory muscle assessment has been recognised and a variety of tests has been proposed 1, 2. The strength of inspiratory muscles can be assessed either by volitional or by nonvolitional tests. The volitional tests are simple, portable and inexpensive. Their main limitation lies in their dependence on maximal voluntary neuromuscular activation, which, in practice, is difficult to ascertain. In contrast, the cortical motor command is bypassed by nonvolitional tests such as phrenic nerve magnetic stimulation 3. Phrenic nerve stimulation offers the most reliable measure of diaphragm contractility, but is not widely available because it requires expensive equipment. It must be added that phrenic nerve stimulation may overestimate the diaphragm strength that is actually available to the patient in case of upper motor neuron lesions 4. Thus, notwithstanding their limitations, volitional tests remain on the first line and must be best exploited. Maximum inspiratory pressure ( P I,max) is the classic volitional test of inspiratory muscle strength. It is measured as the highest mouth pressure sustained for 1 s during a maximum inspiratory effort against a quasi occlusion. Although simple in principle, the P I,max manoeuvre is difficult for many and requires a hermetic seal around the mouthpiece. As a consequence, low values may be due to true muscle weakness, a submaximal effort, or air leaks in the case of facial muscle weakness. The sniff is an …

The purpose of this project was to investigate the clinical forms of acquired myasthenia gravis in dogs. The medical records from 25 dogs with seropositive acquired myasthenia gravis were reviewed, and the following data were recorded for each patient: signalment, history, clinical findings; results of IV edrophonium chloride administration, repetitive nerve stimulation, and presence or absence of muscle membrane staining by immunocytochemical methods; serum acetylcholine receptor antibody concentration; treatment; and outcome. Several clinical forms of acquired myasthenia gravis were identified. Nine of the 25 patients (36%) had no historical or clinical evidence of appendicular muscle weakness, and were designated as focal myasthenics. These dogs exhibited focal weakness in one or more of the following muscle groups: facial (3 of 9), pharyngeal (3 of 9), and laryngeal (3 of 9). The remaining 16 dogs (64%) exhibited appendicular muscle weakness. Four of these 16 dogs had acute onset and rapid development of clinical signs, and were designated as acute fulminating myasthenics. The remaining 12 dogs were classified as generalized myasthenics. All 4 dogs with acute fulminating myasthenia gravis had megaesophagus, 2 had facial muscle weakness, and 1 had pharyngeal muscle weakness. Ten of the 12 dogs with generalized myasthenia gravis had megaesophagus, 4 had facial muscle weakness, 4 had pharyngeal muscle weakness, and 3 had laryngeal muscle weakness. Historical or clinical evidence of exercise-associated appendicular weakness was found in only 6 of the 12 (50%) dogs with generalized myasthenia gravis, and in none of the dogs with acute fulminating myasthenia gravis. Seven of the 12 dogs with generalized myasthenia gravis had weakness primarily (n = 1) or exclusively (n = 6) of the pelvic limbs. Two of the 4 dogs with acute fulminating myasthenia gravis had primarily pelvic limb weakness. Twelve of the 25 dogs (48%) died or were euthanized shortly after admission to the hospital due to aspiration pneumonia. The dogs with acute fulminating myasthenia gravis had a markedly higher 1-year mortality rate in comparison with the other 2 groups. The use of immunosuppressive therapy had a significant positive effect on patient survival, regardless of the type of myasthenia gravis. This investigation demonstrates that acquired myasthenia gravis in dogs is a disorder with a wide spectrum of clinical forms, similar to the analogous disorder in people.

A 21-year-old Brazilian woman presented with mild facial muscle weakness, scapular winging and an asymmetric shoulder girdle, and peroneal weakness. Medical history disclosed mildly symptomatic Coats disease (CD) (figure). Muscle MRI studies were highly suggestive of facioscapulohumeral muscular dystrophy type 1 (FSHD1) (figure) and genetic testing confirmed this diagnosis.

Many treatment techniques, including exercise, electrical stimulation, biofeedback, and neuromuscular retraining, have been described for the treatment of patients with facial paresis. The degree of nerve injury determines the recovery of the facial muscles. Patients with a Sunderland third-degree injury benefit most from therapy to maximize facial nerve function. Following a facial nerve palsy, many patients present with facial muscle weakness in addition to aberrant synkinetic movements. Therefore therapy must be directed toward control of voluntary movement and decreasing synkinesis. Neuromuscular reeducation involves selective muscle control to decrease synkinesis and increase muscle excursion. Muscle reeducation using surface electromyographic (EMG) biofeedback and home exercises has been shown to be efficacious in the treatment of facial palsies. Neuromuscular retraining can be beneficial in maximizing facial recovery by initially decreasing aberrant synkinetic muscle activity and then increasing voluntary movement and excursion.

Bell’s palsy is the most common condition affecting facial nerves. It is an acute, rapidly progressing, idiopathic, unilateral facial paralysis that is generally self-limiting and non–life threatening that occurs in all age groups ( Okuwobi, Omole, & Griffith, 2003 ). The school nurse may be the first person to assess facial palsy and muscle weakness in children. Because facial palsy and muscle weakness may be an indicator of a serious or life threatening condition, the school nurse plays a critical role in early recognition and referral. The Gordon Facial Muscle Weakness Assessment Form is presented as a tool designed to assist school nurses in recognizing children with facial muscle weakness and in determining whether a primary health care provider referral should be considered immediate or urgent.

Bilateral facial palsy is a common sign of autoimmune myasthenia gravis (MG). However, facial muscle weakness without clinical signs of extraocular muscle (EOM) involvement is extremely rare. We describe a late onset generalized MG presenting with facial weakness and bulbar signs without EOM deficits. The diagnosis was based on neurophysiological assessment and positive acetylcholine receptor antibody titer. Thymoma was excluded. The clinical response to corticosteroids, pyridostigmine and intravenous immunoglobulin was complete. EOM weakness was never observed during a 3-year follow-up, also during a later exacerbation of MG.

About 20% of patients with generalized myasthenia gravis (MG) have undetectable serum antibodies to the nicotinic acetylcholine receptor (AChR). These patients are referred to as having seronegative MG. Recently, it has been demonstrated that about 50% of patients with generalized seronegative MG have antibodies to the surface membrane enzyme muscle-specific tyrosine kinase (MuSK) in Caucasian populations and a high frequency of respiratory crises.1 Here, we report a case of MG with anti-MuSK antibodies presenting with vocal cord paralysis, facial muscle weakness, and bulbar palsy. A 56-year-old man showed mild upper limb muscle weakness and fatigue on swallowing and chewing that worsened at the end of days in April 2000. He was admitted to our hospital in February 2001. Neurologic examination revealed mild muscle weakness and atrophy of his proximal muscles in the neck, shoulder, upper arm, and thigh. Nasal voice and dysphagia and facial muscle weakness were also observed, There was no ptosis or diplopia. Although repetitive …

The purpose of “Evidence in Practice” is to illustrate how evidence is gathered and used to guide clinical decision making. This article is not a case report. The examination, evaluation, and intervention sections are purposely abbreviated. A 35-year-old woman was referred to our clinic with the diagnosis of Bell palsy, a unilateral facial palsy of unknown etiology. The patient reported that she first noticed the problem when she awoke 2 days ago and saw that her face “was distorted and deviated towards the right side.” She stated that she was recovering from a recent respiratory tract infection and that the evening before the facial symptoms appeared, she experienced pain in the mastoid region. Upon observing the facial asymmetry, the patient was concerned that she was having a stroke. The patient saw her primary care physician who diagnosed her as having Bell palsy after having ruled out a tumor, stroke, and Lyme disease by physical examination, magnetic resonance imaging studies, and laboratory tests including blood work. The physician prescribed acyclovir and prednisolone and suggested a consultation with a physical therapist for management of her facial muscle weakness. Upon arrival in our clinic, the patient expressed great concern that her facial weakness would interfere with her work as a lawyer and indicated that she was willing to adhere to any treatment regimen that would enhance her chances of early and optimal recovery. Our examination of the patient's vital signs revealed a heart rate of 76 bpm and blood pressure of 126/80 mm Hg. The neurologic examination revealed facial asymmetry at rest with drooping of the corner of the mouth and some accumulation of saliva on the left side of the mouth and a decrease in the prominence of the nasal labial fold. Sensation over the left side of the face was intact; …

MG is an antibody-mediated disease that is often treated with corticosteroids. Antibodies to the muscle specific tyrosine kinase (MuSK) have been identified in a proportion of patients with myasthenia gravis (MG) without acetylcholine receptor (AChR) antibodies. MuSK-MG patients often suffer from marked facial muscle weakness, and some patients develop facial and tongue muscle atrophy. MuSK is a receptor tyrosine kinase that plays an essential role during development and is thought to play a trophic role in mature muscle. It is possible, therefore, that the muscle atrophy results from the action of the MuSK antibodies themselves, but effects of corticosteroids on muscle might also be involved. Muscle atrophy in vivo is associated with upregulation of striated Muscle RING-Finger protein-1 (MURF-1), and MURF-1 is also upregulated in C2C12 myotubes exposed to the corticosteroid, dexamethasone (Dex). Here we investigated the effects of MuSK antibodies or Dex on MURF-1 expression in C2C12 cultures and in mouse muscles after treatment in vivo, using quantitative Western blotting. We also looked at expression of neural cell adhesion molecule (NCAM, CD56) that is upregulated after denervation in vivo. MuSK-MG plasma and purified IgG from a patient with marked muscle atrophy modestly increased MURF-1 expression in C2C12 cells in culture, and MURF-1 expression in mouse masseter (facial) muscle, but not in gastrocnemius (leg). Dex had a more marked effect on MURF-1 expression in C2C12 cells, but did not affect MURF-1 expression in either muscle. However, both in C2C12 cells and in vivo, Dex substantially reduced NCAM expression. These results provide the first evidence that MuSK-MG plasma can influence expression of an atrophy-related protein, and preliminary evidence that a facial muscle, the masseter, is more susceptible to this effect. They indicate the need for further studies on muscle atrophy, MuSK-MG antibodies, the effects of steroids, and the intracellular pathways involved.

Central core disease (CCD) is a form of myopathy inherited autosomal dominantly. It is caused by mutations in RYR1 and allelic to malignant hyperthermia. The diagnosis is established by characteristic muscle pathology and the identification of mutation. Here we report clinical and pathological features of a Korean family with CCD carrying a novel RYR1 mutation. A 15-year-old boy presented with slowly progressive weakness of bilateral legs since school age. The boy could not run and had difficulty in climbing stairs. His muscle weakness slowly progressed and he now has difficulty in rising up from a chair. His mother and sister had markedly milder proximal leg weakness. Diffuse muscle atrophy was noted especially in lower extremities. Muscle power examination disclosed predominantly proximal leg weakness. Serum creatine kinase was within normal limits, and needle electromyography showed active myopathic pattern. Muscle biopsy revealed multiple peripheral and central cores in muscle fibers devoid of oxidative enzyme activities. All the muscle fibers were of type 1. Sequence analysis of RYR1 disclosed a novel mutation in exon 101 (c.14590T>C[p.Tyr4864His]). None of the affected members showed facial muscle weakness or skeletal deformities, although it is said to be frequently accompanied in CCD. Marked difference in clinical severity is noted between proband and his mother; this kind of intrafamilial phenotypic variability had previously been reported in CCD. It has been known that mutations at C-terminal of RYR1 are associated with severe clinical phenotype and clearly demarcated central cores, while mutations outside the C-terminal show milder clinical phenotype and atypical cores in their muscle fiber. Interestingly, the mutation identified in this family is at C-terminal region, all the affected members showed mild phenotype of later-onset and atypical cores inexplicitly ovoid with indistinct borders in the subsarcolemmal areas.

Fukuyama congenital muscular dystrophy (FCMD) is the second most common type of muscular dystrophy in Japan. It is an autosomal recessive disorder caused by mutation in fukutin , characterised by central nervous system involvement. Progressive respiratory dysfunction typically emerges early in the second decade of life, and if left untreated, death usually occurs in the late teens from chronic respiratory failure (CRF) or cardiac dysfunction. Nowadays, non-invasive positive pressure ventilation (NPPV) has been used as an effective therapy, although tracheostomy with invasive ventilation (TIV) may be needed in some cases. We retrospectively reviewed the clinical records of 51 genetically diagnosed patients with FCMD. Mean age of the last case observed was 12 ± 5.6 years. CRF was diagnosed on the basis of percutaneous oxygen saturation, end-tidal carbon dioxide and blood gas analysis. Nineteen patients developed CRF, and the mean age of onset was 12 ± 5.2 years. Nine and 10 patients had a founder homozygous mutation (homozygotes) and a compound heterozygous mutation (heterozygotes), respectively. Eleven patients who could sit on their own were classified as a typical form, and 6 who could not gain head control were classified as a severe form. Although the mean age of CRF onset in the typical form was lesser than that in the severe form (13 ± 2.8 years vs. 9.6 ± 5.2 years, respectively). NPPV therapy was initiated in all patients with CRF; however, 2 patients needed TIV later because infection caused difficulties in extubation. Some patients had difficulty using masks for NPPV and were non-cooperative because they had cognitive problems or could not keep closing their mouth because of facial muscle weakness. However, these problems were solved using different types of mask or ventilation settings. In conclusion, patients with the severe form of FCMD and heterozygous mutations developed CRF much earlier than those with the typical form.

Purpose This study determined the incidence of maxillofacial involvement in patients diagnosed with arthrogryposis multiplex congenita (AMC), Patients and Methods Twenty-three patients were evaluated by the pediatric physical medicine and rehabilitation, orthopedic surgery, and pediatric oral and maxillofacial surgery departments. Any patient in whom the diagnosis of AMC was in doubt was excluded from the study. All patients with limited mandibular function underwent computed tomography (CT) examination of their temporomandibular joints (TMJ). The results of physical therapy were followed. Results Five of the 23 patients diagnosed with AMC were found to have maxillofacial involvement, eg, presence of cleft palate, Robin-like sequence, high-arched palate, open-bite deformity, facial muscle weakness, esophageal dysfunction, and limited mandibular opening. No TMJ abnormalities were found by CT scan. Physical therapy was used for treatment of the limited opening, but relapse occurred quicky after therapy was discontinued. Conclusion The incidence of maxillofacial findings is similar to that of most other reports. Treatment involves surgical correction of abnormal anatomy when possible (ie, cleft repair), symptomatic management (ie, esophageal dysfunction), and physical therapy.

Myasthenia gravis is the most prevalent of the diseases of the neuromuscular junction in children. The most common clinical finding is ptosis, although ophthalmoplegia and facial weakness are commonly present. This paper reports juvenile myasthenia gravis in a 7-year-old boy with predominant facial muscle weakness without ophthalmoplegia and ptosis. This was detected post-operatively after adenotonsillectomy, as there was severe respiratory distress. Prompt diagnosis and treatment was life saving. A CT scan of the chest revealed thymoma. After the surgical removal of the thymoma, the child has been followed up for a year and is asymptomatic.

We describe a father and daughter with early-onset benign limb-girdle myopathy and contractures of elbows and hands, resembling Bethlem disease. Muscle biopsy showed a pattern of dystrophy with non specific mitochondrial changes. In both patients there was unusual facial muscle weakness. We discuss the nosological position of Bethlem myopathy and suggest that facial involvement may be an additional feature of this disease.

Two simple bedside methods for the assessment of perioral muscle function are described. Using a marking gauge, the width of the mouth can be measured easily and accurately. Lip-length (LL) and snout (S) indices are expressions of the degree to which the width of the mouth can be lengthened or shortened. Facial muscle weakness as present in patients with various neuromuscular diseases results in low values for both indices. LL- and S-indices are measured by 3 observers in 19 healthy volunteers. Interobserver variation is negligible for the LL-index and large for the S-index. Intraobserver variation is moderate for both indices but slightly smaller for the LL- than for the S-index. The LL-index is suited for the assessment of changes in peri-oral musculature in longitudinal investigations.

Adrenal corticosteroids are the mainstay of therapy in dermatomyositis. Unfortunately, about one fifth of the patients, primarily those with the acute form of the disease, do not respond to steroid therapy 1 or are unable to tolerate the required dosage level. Improvement in steroid-refractory myositis has been reported after the addition of the folic acid antagonist, methotrexate. 2-6 We describe a patient with dermatomyositis who failed to maintain a response with prednisone but underwent complete remission after the addition of oral methotrexate therapy. Report of a Case A 67-year-old woman had an eight-month history of swelling and erythema of the hands, feet, and periorbital regions. Progressive symmetrical proximal muscle weakness of the extremities also developed. The patient was unable to comb her hair or lift her arms above her head. Dysphagia, facial muscle weakness, Raynaud's phenomenon, and arthritis were absent. An endometrial carcinoma of the uterus had been successfully treated